New Genetic Risk Factor for Both Autism and Schizophrenia

Researchers have uncovered a prominent genetic risk factor for autism spectrum disorders and schizophrenia. The study, published by Cell Press on Nov. 4 in the American Journal of Human Genetics, reports a small genomic deletion in patients with these neurological conditions. The region includes a gene in which mutations cause a kidney disease (renal cysts and diabetes syndrome, RCAD).

ASDs include a range of neurodevelopmental conditions that are being diagnosed at an increasing rate. The Center for Disease Control and Prevention estimates that ASD currently affects 1 in 110 people. The prevalence of schizophrenia, with a diagnostic rate of 1 in 100 to 1 in 20, is similar. ASD and schizophrenia affect males more often than females, and both are thought to have a strong and overlapping genetic component.

“The genetic overlap between ASD and schizophrenia, both of which have a high heritability, has been the focus of several recent studies; however, no single specific genetic cause accounts for more than 1%-2% of cases,” says Dr. Daniel Moreno-De-Luca, the lead author of the study.

Dr. Moreno-De-Luca and colleagues analyzed genomic DNA from more than 23,000 patients with ASD, developmental delay, or schizophrenia. They were looking for DNA duplications or deletions referred to as copy-number variants (CNV). Remarkably, they found the same deletion on chromosome 17 in 24 separate patients. This CNV was absent in 52,448 controls, making the finding statistically significant…..

The above story is reprinted (with editorial adaptations by ScienceDaily staff) from materials provided by Cell Press, via EurekAlert!, a service of AAAS.

Journal Reference:
1. Daniel Moreno-De-Luca , Jennifer G. Mulle , Erin B. Kaminsky , Stephan J. Sanders , Scott M. Myers , Margaret P. Adam , Amy T. Pakula , Nancy J. Eisenhauer , Kim Uhas , LuAnn Weik , Lisa Guy , Melanie E. Care , Chantal F. Morel , Charlotte Boni , Bonnie Anne Salbert , Ashadeep Chandrareddy , Laurie A. Demmer , Eva W.C. Chow , Urvashi Surti , Swaroop Aradhya , Diane L. Pickering , Denae M. Golden , Warren G. Sanger , Emily Aston , Arthur R. Brothman , Troy J. Gliem , Erik C. Thorland , Todd Ackley , Ram Iyer , Shuwen Huang , John C. Barber , John A. Crolla , Stephen T. Warren , Christa L. Martin and David H. Ledbetter. Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia. American Journal of Human Genetics, 2010; DOI: 10.1016/j.ajhg.2010.10.004

Reported by ScienceDaily (Nov. 5, 2010)

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